Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.I320insFs
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NR0B1

NM_000475.5:p.I320insFs

Associated Papers

A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

Heo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.

Lee YW et al.

The Journal of International Medical Research, 0

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